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Hum. Reprod. Advance Access originally published online on June 14, 2006
Human Reproduction 2006 21(9):2396-2402; doi:10.1093/humrep/del186
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

The analysis of one or two blastomeres for PGD using fluorescence in-situ hybridization

An Michiels1,2,4, Elvire Van Assche1,2, Inge Liebaers1,2, André Van Steirteghem2,3 and Catherine Staessen1,2

1 Centre for Medical Genetics 2 Research Centre Reproduction and Genetics and 3 Centre for Reproductive Medicine, Academisch Ziekenhuis, Vrije Universiteit Brussel, Laarbeeklaan, Brussels, Belgium

4 To whom correspondence should be addressed at: Centre for Medical Genetics, Academisch Ziekenhuis, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090 Brussels, Belgium. E-mail: an.michiels{at}az.vub.ac.be

BACKGROUND: The analysis of one or two blastomeres for PGD using fluorescence in-situ hybridization (FISH) is debated. The proportion of analysable embryos, false negatives, false positives, sensitivity, specificity, negative predictive value (NPV), positive predictive value (PPV) and efficiency were evaluated when one or two blastomeres were analysed. METHODS: Embryos of patients having PGD for aneuploidy screening were assigned non-randomly to two groups: group I (n = 413), more slow cleaving embryos with one nucleus for analysis, and group II (n = 1366), regularly cleaving embryos with two nuclei for analysis. A two-round FISH procedure was performed investigating seven chromosomes; 486 embryos were reanalysed. RESULTS: The proportion of analysable embryos was significantly higher in group II (98.2 versus 95.9%) (P = 0.04). Despite the apparently increased false-positive rate (group I: 25.6% and group II: 13.6%) and the decreased PPV (group I: 91.9% and group II: 96.7%), specificity (group I: 74.4% and group II: 86.4%) and efficiency (group I: 93.5% and group II: 97.3%) in group I, no significance was reached (P = 0.11, P = 0.053, P = 0.11 and P = 0.06, respectively). CONCLUSIONS: Although the analysis of one blastomere generates statistically significantly fewer embryos with a diagnosis than does the analysis of two blastomeres, the 2% difference may not be clinically relevant. The diagnostic accuracy is not significantly different between the two groups, hence not favouring the analysis of one or two blastomeres.

Key words: aneuploidy screening/diagnostic accuracy/FISH/one blastomere biopsy/PGD


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